My name is Uxue. I am from Navarra, a province located in the north of Spain. In July of this year (2023) I will be 4 years old. My mom had a normal pregnancy. When I was born, I couldn't breastfeed and mom had to use nipple shields and breast pumps. I was a very good girl, so good that I didn’t cause any trouble, something that mom started to get worried about. The first diagnosis was “Global developmental delay”. We started with early attention therapies.
When I was 2 years old I had an ear surgery (they placed drainage tubes). They did a hearing test and I couldn't hear well. In addition, I had many otitis. My parents came to think that the problem was related to hearing and that with the surgery everything would be solved. After the surgery they checked my ears again and verified that my hearing was perfect although my evolution was still very stagnant. The problem was not related to a lack of hearing.
They performed more medical tests to rule out any organic lesions: MRI, ECG in sleep, genetic tests... The results of these tests were normal.
Meanwhile, in the kindergarten I was taken care by a fully dedicated caregiver (through government support). I needed her. I needed to have a person by my side to guide me.
The second diagnosis was “Suspected Autism Spectrum Disorder (ASD)”. The doctors did not classify me as a child with autism, but I did have autistic features. Due to this, they performed a "trio genome study" on mom, dad and myself. Usually in this study no altered gene came out, that is, no pathology.
My parents “hit the jackpot” when we received the results of the genetic study. They had found that it had an alteration in the AGO1 (DE NOVO) gene, specifically the variant c.539_541delTCT p.Phe180del. A very rare disease, with very few cases diagnosed in the world, so few that the doctors told us that this disease had not yet been assigned with a name. They told us that the disease caused intellectual disability, autistic traits, and epilepsy. They didn't know much more about this disease. We left the pediatric neurology clinic with an article on the disease, 3 pages in English, which we had to translate at home using Google translate. It was then when we realized that this disease caused the aforementioned disorders, but also many more.
I am currently on medication for epilepsy, I have had more epileptic seizures at night. I am a very cheerful girl, but I need constant attention. I am totally dependent on other people to dress, bathe, eat... To this day I can bear having children around me, although “I do my own thing". At the moment I go to a regular school, and to make this possible, a caregiver, Soraya, accompanies me throughout the school day. Not being able to communicate generates me a lot of frustration. I receive several weekly therapies that are necessary so that time does not play against my evolution, and in order to be able to develop all my abilities to the maximum. I have a 1-year-old brother named Julen, who is not affected by this disease.
My parents found this association recently, and it has helped them a lot. They have found a family in Florida that has a daughter with the same alteration in AGO1. Being able to share information and learn more about this disease is being amazing for them.
For all these reasons I want to share my case with you, and also to make this disease more visible and be able to find more people like me.
The future is uncertain, there is hardly any research on this disease and its effects significantly vary from one person to another.
I will continue walking this difficult path hand in hand with my mother Ana, my father Iker and my little brother Julen.